A5063397387- Platelet Disorders and Treatments
- DNA Repair Mechanisms
- Blood groups and transfusion
- Blood disorders and treatments
- Cell Adhesion Molecules Research
- Blood properties and coagulation
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Chronic Lymphocytic Leukemia Research
- Microtubule and mitosis dynamics
- Erythrocyte Function and Pathophysiology
- Acute Myeloid Leukemia Research
- Protist diversity and phylogeny
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Caveolin-1 and cellular processes
- Pregnancy and preeclampsia studies
- SARS-CoV-2 and COVID-19 Research
- Genomic variations and chromosomal abnormalities
- Immunodeficiency and Autoimmune Disorders
- SARS-CoV-2 detection and testing
- Chromosomal and Genetic Variations
- Pneumocystis jirovecii pneumonia detection and treatment
- Autoimmune Bullous Skin Diseases
- Muscle Physiology and Disorders
- Diabetes Treatment and Management
IRCCS Materno Infantile Burlo Garofolo
2015-2025
University of Trieste
2011-2020
Background Bernard-Soulier syndrome is a severe bleeding disease due to defect of GPIb/IX/V, platelet complex that binds the von Willebrand factor. Due rarity disease, there are reports only on few cases compromising any attempt establish correlations between genotype and phenotype. In order identify associations, we describe largest case series ever reported, which was evaluated systematically at same center.Design Methods Thirteen patients with seven obligate carriers were enrolled. We...
Background Bernard-Soulier syndrome is a very rare form of inherited thrombocytopenia that derives from mutations in GPIbα, GPIbβ, or GPIX and typically as recessive disease. However, some years ago it was shown the monoallelic c.515C>T transition GPIBA gene (Bolzano mutation) responsible for macrothrombocytopenia few Italian patients.Design Methods Over past 10 years, we have searched Bolzano mutation all subjects referred to our institutions because an autosomal, dominant unknown...
Pregnancy in women with inherited thrombocytopenias is a major matter of concern as both the mothers and newborns are potentially at risk bleeding. However, medical management this condition cannot be based on evidence because lack consistent information literature. To advance knowledge matter, we performed multicentric, retrospective study evaluating 339 pregnancies 181 13 different forms thrombocytopenia. Neither degree thrombocytopenia nor severity bleeding tendency worsened during...
Background/Objectives: ETV6-related thrombocytopenia (ETV6-RT) is a rare autosomal dominant disorder characterized by mild since birth and an increased predisposition to hematologic malignancies. ETV6 functions as transcriptional repressor, its pathogenic variants, predominantly within the ETS domain, disrupt nuclear localization activity. In individuals with congenital thrombocytopenia, we identified two missense variants: c.1110A>G, p.Ile370Met, novel variant, c.1133G>A, p.Arg378Gln,...
The gray platelet syndrome is a rare inherited bleeding disorder characterized by macrothrombocytopenia and deficiency of alpha (α)-granules in platelets. genetic defect responsible for was recently identified biallelic mutations the NBEAL2 gene. We studied 11 consecutive families with unknown origin α-granule deficiency. All them underwent DNA sequencing evaluation phenotype, including systematic assessment content immunofluorescence analysis secretory proteins. 9 novel hitting two alleles...
Fanconi anemia is an inherited disease characterized by congenital malformations, pancytopenia, cancer predisposition, and sensitivity to cross-linking agents. The molecular diagnosis of relatively complex for several aspects including genetic heterogeneity with mutations in at least 16 different genes. In this paper, we report the identified 100 unrelated probands enrolled into National Network Italian Association Pediatric Hematoly Oncology. approximately half these cases, mutational...
Abstract Isomorphic mutation of the SBDS gene causes Shwachman-Diamond syndrome (SDS). SDS is a rare genetic bone marrow failure and cancer predisposition syndrome. cells have ribosome biogenesis their protein synthesis altered, which are two high-energy consuming cellular processes. The reported changes in reactive oxygen species production, endoplasmic reticulum stress response reduced mitochondrial functionality suggest an energy production defect cells. In our work, we demonstrated that...
Fanconi anemia is a rare disease characterized by congenital malformations, aplastic anemia, and predisposition to cancer. Despite the consolidated role of proteins in DNA repair, their involvement mitochondrial function emerging. The purpose this work was assess whether phenotype, independent genomic integrity, could correlate with patient phenotype. We evaluated clinical features 11 affected individuals homozygous or compound heterozygous for p.His913Pro p.Arg951Gln/Trp, two residues FANCA...
Bromelain is a complex mixture of thiol proteases and other non-proteolytic constituents, commercially extracted primarily from the pineapple stem. Evidence several in vitro vivo studies highlights its excellent bioavailability, lack side effects, broad spectrum medical efficacies, which antiphlogistic properties are among most valuable ones. has indeed been employed for efficient treatment many inflammatory disorders, ranging osteoarthritis bowel diseases to cancer-related inflammation.The...
Abstract The fast spread of the novel coronavirus (SARS-CoV-2) has become a global threat hitting worldwide fragile health care system. In Italy, there is continued COVID-19 growth cases and deaths that requires control measures for correct management epidemiological emergency. To contribute to increasing overall knowledge COVID-19, systematic tests in general population are required. Here, we describe first Italian survey performed 727 employees belonging Mother-Child Research hospital...
Summary The inherited thrombocytopenias ( IT ) are a heterogeneous group of diseases resulting from mutations in more than 30 different genes. Among them, ACTN 1 ‐related thrombocytopenia 1‐ RT ; Online Mendelian Inheritance Man: 615193) is one the most recently identified forms. It has been described as mild autosomal dominant macrothrombocytopenia caused by , gene encoding for two non‐muscle isoforms α‐actinin. We seven new unrelated families with ‐ mutations. Two them novel missense...
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Abstract Study question Do stromal alterations occur during placentation upon heterologous assisted reproductive techniques (ART) and are they associated with a higher risk of developing preeclampsia? Summary answer The remodelling extracellular matrix molecules, key for vascularization immunity, is altered in pregnancies from oocyte donation resembles the miss-regulations observed preeclampsia. What known already Preeclampsia represents one main causes maternal perinatal morbidity,...
Abstract Background Warsaw Breakage Syndrome (WABS) is an ultra rare cohesinopathy caused by biallelic mutation of DDX11 gene. It clinically characterized pre and postnatal growth delay, microcephaly, hearing loss with cochlear hypoplasia, skin color abnormalities, dysmorphisms. Methods Mutational screening functional analyses (protein expression 3D‐modeling) were performed in order to investigate the presence pathogenicity variant identified our patients. Results We report clinical history...
Introduction: Fanconi anemia (FA) is a genome instability condition that drives somatic mosaicism in up to 25% of all patients, phenomenon now acknowledged as good prognostic factor. Herein, we describe the case P1, FA proband carrying splicing variant, molecularly compensated by de novo insertion. Methods and Results: Targeted next-generation sequencing on P1’s peripheral blood DNA detected known FANCA c.2778 + 83C > G intronic mutation suggested presence large deletion other allele,...
Fanconi anemia (FA) is a recessive DNA repair disease characterized by high predisposition to developing neoplasms. tumor polyomavirus simian virus 40 (SV40) transforms FA fibroblasts at efficiency suggesting that patients could be highly susceptible SV40 infection. To test this hypothesis, the large (LT) antigen of SV40, BKV, JCV and Merkel Cell (MC) polyomaviruses were tested in blood samples from 89 82 their parents. Two control groups consisting 47 no-FA affected other genetic bone...
Bone marrow (BM) failure, increased risk of myelodysplastic syndrome, acute leukaemia and solid tumors, endocrinopathies congenital abnormalities are the major clinical problems in Fanconi anemia patients (FA). Chromosome instability DNA repair defects cellular characteristics used for diagnosis. However, these biological not sufficient to explain all phenotype FA patients. The known structural alteration cell cytoskeleton, altered organization intermediate filaments, nuclear lamina,...
Background Fanconi anemia (FA) is a rare genetic disease characterized by congenital malformations, aplastic and increased risk of developing malignancies. FA genetically heterogeneous as it caused at least 17 different genes. Among these, FANCA , FANCC FANCG account for approximately 85% the patients whereas remaining genes are mutated in only small percentage cases. For this reason, molecular diagnostic process complex not always extended to all genes, preventing characterization...